V68L (p.Val68Leu) variant of EZH1 (Q92800)
V68L (p.Val68Leu) in EZH1 (Q92800) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
V68L (p.Val68Leu) variant details
- p.Val68Leu
- 1000Genomes rs199830078
- ExAC rs199830078
- TOPMed rs199830078
- gnomAD rs199830078
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.27
- CADD 19.40
- PolyPhen-2 0.02
- SIFT 0.10
- Most common in the HGDP:XIBO population (allele frequency 0.056)
- Structural context available